المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000180; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52

المؤلفون: Nicholas Owen, Maria Toms, Rodrigo M. Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks, Mariya Moosajee, J.C. Ambrose, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, Burca A. de, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, J.E. Holman, T.J.P. Hubbard, R. Jackson, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki

المصدر: Genetics in Medicine. 24:1073-1084

مصطلحات موضوعية: Ankyrins, Coloboma, Mice, Phenotype, Animals, Humans, Microphthalmos, Genetic Testing, Bone Morphogenetic Protein Receptors, Type I, Zebrafish, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abcc2c448dd2359acc7f64e01c39af8
https://doi.org/10.1016/j.gim.2021.12.014

المؤلفون: Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki

المساهمون: UCL, Institute of Neurology [London], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), William Harvey Research Institute, Barts and the London Medical School, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Manchester University NHS Foundation Trust (MFT), Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Weill Cornell Medicine [New York], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), University Hospital Leipzig, University Hospital Düsseldorf, St George’s University Hospitals, Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), University College London Hospitals NHS Foundation Trust [London, UK] (UCLH), Centre Hospitalier de Versailles André Mignot (CHV), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Auteur indépendant, University of Pécs Medical School (UP MS), University of Pecs, Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), University of Utah School of Medicine [Salt Lake City], Princess Anne Hospital [Southampton, UK] (PAH), University of Southampton, University Hospital Southampton NHS Foundation Trust, Department of Pathology [Yale], Yale School of Medicine [New Haven, Connecticut] (YSM), H.M., J.V., and H.H. are supported by an Medical Research Council strategic award, MR/S005021/1, to establish International Centre for Genomic Medicine in Neuromuscular Diseases. H.M. is supported by Wellcome Trust grant 220906/Z/20/Z. H.H. is funded by the Medical Research Council (MR/S01165X/1, MR/S005021/1, G0601943), NIHR University College London Hospitals Biomedical Research Centre, Rosetree Trust UK, Ataxia UK, Multiple System Atrophy Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK, and Multiple System Atrophy Trust. R.But. is supported by the Penelope Rare and Undiagnosed Disease Program at the University of Utah with funding from the Center for Genomic Medicine and with support from Matt Velinder (Department of Human Genetics, University of Utah) and Rong Mao and Pinar Bayrak-Toydemir (ARUP Laboratories). B.M. is supported by NKFIH K138669. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health and Care Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded the research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. This study makes use of data generated by the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) community. A full list of centers which contributed to the generation of the data is available at https://deciphergenomics.org/about/stats and via email from contact@deciphergenomics.org. Funding for the DECIPHER project was provided by Wellcome. We are thankful to the Deciphering Developmental Disorders Study for the invaluable collaboration. The Deciphering Developmental Disorders Study (Cambridge South Research Ethics Committee approval 10/H0305/83 and the Republic of Ireland Research Ethics Committee GEN/284/12) presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and Department of Health and the Wellcome Trust Sanger Institute (grant number WT098051), MORNET, Dominique, Nottingham University Hospitals NHS Trust (NUH), Weill Cornell Medicine [Cornell University], Cornell University [New York]

المصدر: Genetics in Medicine
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013

مصطلحات موضوعية: [SDV] Life Sciences [q-bio], Developmental delay, [SDV]Life Sciences [q-bio], Hereditary spastic paraplegia, Genetics (clinical), Hereditary ataxia, SPTAN1, Developmental epileptic encephalopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bed7407f3676cdb65ab360030ed566
https://hal.science/hal-03840317/document

المؤلفون: G. B. Ehret, T. Ferreira, D. I. Chasman, A. U. Jackson, E. M. Schmidt, T. Johnson, G. Thorleifsson, J. Luan, L. A. Donnelly, S. Kanoni, A. Petersen, V. Pihur, R. J. Strawbridge, D. Shungin, M. F. Hughes, O. Meirelles, M. Kaakinen, N. Bouatia Naji, K. Kristiansson, S. Shah, M. E. Kleber, X. Guo, L. Lyytikäinen, C. Fava, N. Eriksson, I. M. Nolte, P. K. Magnusson, E. L. Salfati, L. S. Rallidis, E. Theusch, A. J. P. Smith, L. Folkersen, K. Witkowska, T. H. Pers, R. Joehanes, S. K. Kim, L. Lataniotis, R. Jansen, A. D. Johnson, H. Warren, Y. J. Kim, W. Zhao, Y. Wu, B. O. Tayo, M. Bochud, D. Absher, L. S. Adair, N. Amin, D. E. Arking, T. Axelsson, D. Baldassarre, B. Balkau, S. Bandinelli, M. R. Barnes, I. Barroso, S. Bevan, J. C. Bis, G. Bjornsdottir, M. Boehnke, E. Boerwinkle, L. L. Bonnycastle, D. I. Boomsma, S. R. Bornstein, M. J. Brown, M. Burnier, C. P. Cabrera, J. C. Chambers, I. Chang, C. Cheng, P. S. Chines, R. Chung, F. S. Collins, J. M. Connell, A. Döring, J. Dallongeville, J. Danesh, U. de Faire, G. Delgado, A. F. Dominiczak, A. S. F. Doney, F. Drenos, S. Edkins, J. D. Eicher, R. Elosua, S. Enroth, J. Erdmann, P. Eriksson, T. Esko, E. Evangelou, A. Evans, T. Fall, M. Farrall, J. F. Felix, J. Ferrières, L. Ferrucci, M. Fornage, T. Forrester, N. Franceschini, O. H. Franco, A. Franco Cereceda, R. M. Fraser, S. K. Ganesh, H. Gao, K. Gertow, F. Gianfagna, B. Gigante, F. Giulianini, A. Goel, A. H. Goodall, M. O. Goodarzi, M. Gorski, J. Gräßler, C. J. Groves, V. Gudnason, U. Gyllensten, G. Hallmans, A. Hartikainen, M. Hassinen, A. S. Havulinna, C. Hayward, S. Hercberg, K. Herzig, A. A. Hicks, A. D. Hingorani, J. N. Hirschhorn, A. Hofman, J. Holmen, O. L. Holmen, J. Hottenga, P. Howard, C. A. Hsiung, S. C. Hunt, M. A. Ikram, T. Illig, C. Iribarren, R. A. Jensen, M. Kähönen, H. M. Kang, S. Kathiresan, B. J. Keating, K. Khaw, Y. K. Kim, E. Kim, M. Kivimaki, N. Klopp, G. Kolovou, P. Komulainen, J. S. Kooner, G. Kosova, R. M. Krauss, D. Kuh, Z. Kutalik, J. Kuusisto, K. Kvaløy, T. A. Lakka, N. R. Lee, I. Lee, W. Lee, D. Levy, X. Li, K. Liang, H. Lin, L. Lin, J. Lindström, S. Lobbens, S. Männistö, G. Müller, M. Müller Nurasyid, F. Mach, H. S. Markus, E. Marouli, M. I. Mccarthy, C. A. Mckenzie, P. Meneton, C. Menni, A. Metspalu, V. Mijatovic, L. Moilanen, M. E. Montasser, A. D. Morris, A. C. Morrison, A. Mulas, R. Nagaraja, N. Narisu, K. Nikus, C. J. O'Donnell, P. F. O'Reilly, K. K. Ong, F. Paccaud, C. D. Palmer, A. Parsa, N. L. Pedersen, B. W. Penninx, M. Perola, A. Peters, N. Poulter, P. P. Pramstaller, B. M. Psaty, T. Quertermous, D. C. Rao, A. Rasheed, N. W. Rayner, F. Renström, R. Rettig, K. M. Rice, R. Roberts, L. M. Rose, J. Rossouw, N. J. Samani, S. Sanna, J. Saramies, H. Schunkert, S. Sebert, W. H. Sheu, Y. Shin, X. Sim, J. H. Smit, A. V. Smith, M. X. Sosa, T. D. Spector, A. Stančáková, A. V. Stanton, K. E. Stirrups, H. M. Stringham, J. Sundstrom, A. J. Swift, A. Syvänen, E. Tai, T. Tanaka, K. V. Tarasov, A. Teumer, U. Thorsteinsdottir, M. D. Tobin, E. Tremoli, A. G. Uitterlinden, M. Uusitupa, A. Vaez, D. Vaidya, C. M. van Duijn, E. P. A. van Iperen, R. S. Vasan, G. C. Verwoert, J. Virtamo, V. Vitart, B. F. Voight, P. Vollenweider, A. Wagner, L. V. Wain, N. J. Wareham, H. Watkins, A. B. Weder, H. Westra, R. Wilks, T. Wilsgaard, J. F. Wilson, T. Y. Wong, T. Yang, J. Yao, L. Yengo, W. Zhang, J. H. Zhao, X. Zhu, P. Bovet, R. S. Cooper, K. L. Mohlke, D. Saleheen, J. Lee, P. Elliott, H. J. Gierman, C. J. Willer, L. Franke, G. K. Hovingh, K. D. Taylor, G. Dedoussis, P. Sever, A. Wong, L. Lind, T. L. Assimes, I. Njølstad, P. E. H. Schwarz, C. Langenberg, H. Snieder, M. J. Caulfield, O. Melander, M. Laakso, J. Saltevo, R. Rauramaa, J. Tuomilehto, E. Ingelsson, T. Lehtimäki, K. Hveem, W. Palmas, W. März, M. Kumari, V. Salomaa, Y. I. Chen, J. I. Rotter, P. Froguel, M. Jarvelin, E. G. Lakatta, K. Kuulasmaa, P. W. Franks, A. Hamsten, H. Wichmann, C. N. A. Palmer, K. Stefansson, P. M. Ridker, R. J. F. Loos, A. Chakravarti, P. Deloukas, A. P. Morris, C. Newton Cheh, P. B. Munroe

المساهمون: G.B. Ehret, T. Ferreira, D.I. Chasman, A.U. Jackson, E.M. Schmidt, T. Johnson, G. Thorleifsson, J. Luan, L.A. Donnelly, S. Kanoni, A. Petersen, V. Pihur, R.J. Strawbridge, D. Shungin, M.F. Hughe, O. Meirelle, M. Kaakinen, N. Bouatia Naji, K. Kristiansson, S. Shah, M.E. Kleber, X. Guo, L. Lyytikäinen, C. Fava, N. Eriksson, I.M. Nolte, P.K. Magnusson, E.L. Salfati, L.S. Rallidi, E. Theusch, A.J.P. Smith, L. Folkersen, K. Witkowska, T.H. Per, R. Joehane, S.K. Kim, L. Latanioti, R. Jansen, A.D. Johnson, H. Warren, Y.J. Kim, W. Zhao, Y. Wu, B.O. Tayo, M. Bochud, D. Absher, L.S. Adair, N. Amin, D.E. Arking, T. Axelsson, D. Baldassarre, B. Balkau, S. Bandinelli, M.R. Barne, I. Barroso, S. Bevan, J.C. Bi, G. Bjornsdottir, M. Boehnke, E. Boerwinkle, L.L. Bonnycastle, D.I. Boomsma, S.R. Bornstein, M.J. Brown, M. Burnier, C.P. Cabrera, J.C. Chamber, I. Chang, C. Cheng, P.S. Chine, R. Chung, F.S. Collin, J.M. Connell, A. Döring, J. Dallongeville, J. Danesh, U. de Faire, G. Delgado, A.F. Dominiczak, A.S.F. Doney, F. Dreno, S. Edkin, J.D. Eicher, R. Elosua, S. Enroth, J. Erdmann, P. Eriksson, T. Esko, E. Evangelou, A. Evan, T. Fall, M. Farrall, J.F. Felix, J. Ferrière, L. Ferrucci, M. Fornage, T. Forrester, N. Franceschini, O.H. Franco, A. Franco Cereceda

مصطلحات موضوعية: Settore BIO/14 - Farmacologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/27618452; info:eu-repo/semantics/altIdentifier/wos/WOS:000384391600012; volume:48; issue:10; firstpage:1171; lastpage:1184; numberofpages:14; journal:NATURE GENETICS; http://hdl.handle.net/2434/435178; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84987625495

الاتاحة: http://hdl.handle.net/2434/435178
https://doi.org/10.1038/ng.3667

المؤلفون: F. Liang Ng, E. Boedtkjer, K. Witkowska, M. Ren, R. Zhang, A. Tucker, C. Aalkjær, M. J. Caulfield, Shu Ye

مصطلحات موضوعية: Uncategorized, IR content

Relation: 2381/39173; https://figshare.com/articles/journal_contribution/Increased_NBCn1_expression_Na_HCO3-_co-transport_and_intracellular_pH_in_human_vascular_smooth_muscle_cells_with_a_risk_allele_for_hypertension_/10239620

الاتاحة: https://figshare.com/articles/journal_contribution/Increased_NBCn1_expression_Na_HCO3-_co-transport_and_intracellular_pH_in_human_vascular_smooth_muscle_cells_with_a_risk_allele_for_hypertension_/10239620

المؤلفون: Anjali Vig, James A. Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Kamron N. Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent, Michael E. Cheetham, Chris F. Inglehearn, Anthony Roberts, Elise Heon

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Proband, Retinal degeneration, intraflagellar transport (IFT), Cytoplasmic Dyneins, Ellis-Van Creveld Syndrome, 030105 genetics & heredity, Biology, Article, Retina, 03 medical and health sciences, Exon, chemistry.chemical_compound, primary cilia, medicine, Organoid, Missense mutation, Humans, Induced pluripotent stem cell, Genetics (clinical), Exome sequencing, Retinal Degeneration, Retinal, Exons, DYNC2H1, medicine.disease, Molecular biology, retinitis pigmentosa (RP), Pedigree, inherited retinal disease (IRD), 030104 developmental biology, chemistry, Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0d1392a5b005c16762f6fc0adb770b
http://europepmc.org/articles/PMC7708302

المؤلفون: Amelia, Shoemark, Helen, Griffin, Gabrielle, Wheway, Claire, Hogg, Jane S, Lucas, Carme, Camps, Jenny, Taylor, Mary, Carroll, Michael R, Loebinger, James D, Chalmers, Deborah, Morris-Rosendahl, Hannah M, Mitchison, Anthony, De Soyza, D, Brown, J C, Ambrose, P, Arumugam, R, Bevers, M, Bleda, F, Boardman-Pretty, C R, Boustred, H, Brittain, M J, Caulfield, G C, Chan, T, Fowler, A, Giess, A, Hamblin, S, Henderson, T J P, Hubbard, R, Jackson, L J, Jones, D, Kasperaviciute, M, Kayikci, A, Kousathanas, L, Lahnstein, S E A, Leigh, I U S, Leong, F J, Lopez, F, Maleady-Crowe, M, McEntagart, F, Minneci, L, Moutsianas, M, Mueller, N, Murugaesu, A C, Need, P, O'Donovan, C A, Odhams, C, Patch, D, Perez-Gil, M B, Pereira, J, Pullinger, T, Rahim, A, Rendon, T, Rogers, K, Savage, K, Sawant, R H, Scott, A, Siddiq, A, Sieghart, S C, Smith, A, Sosinsky, A, Stuckey, M, Tanguy, A L, Taylor Tavares, E R A, Thomas, S R, Thompson, A, Tucci, M J, Welland, E, Williams, K, Witkowska, S M, Wood

المصدر: The European respiratory journal. 60(5)

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Kartagener Syndrome, Mutation, Humans, Cilia, Ciliopathies, Bronchiectasis, Ciliary Motility Disorders

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d86413d894f99a8f8c718a94a0c223
https://pubmed.ncbi.nlm.nih.gov/35728977

المؤلفون: M. Tanguy, A. Hamblin, Ehsan Ghayoor Karimiani, Javeria Raza Alvi, Gökhan Yigit, D. Kasperaviciute, Shima Imannezhad, C.R. Boustred, Brigitte Chabrol, Ehtisham Ul Haq Makhdoom, Cécile Mignon-Ravix, Vasiliki Karageorgou, Maria Iqbal, Farah Ashrafzadeh, Sheraz Jamal Khan, Michael Field, Henry Houlden, Adam Jackson, David A. Dyment, J. Pullinger, Yasra Sarwar, S.E.A. Leigh, Jamshaid Mahmood Baig, Zafar Ali, S.C. Smith, A. Stuckey, Muhammad Sajid Hussain, Fatima Rahman, N. Murugaesu, J.C. Ambrose, M. Mueller, K. Sawant, A. Sieghart, E. Walsh, Alistair T. Pagnamenta, Shahid Mahmood Baig, R. Jackson, E.R.A. Thomas, M.B. Pereira, Fowzan S. Alkuraya, K. Witkowska, Augusto Rendon, P. Arumugam, F. Boardman-Pretty, Angelika A. Noegel, Siddharth Banka, Uzma Abdullah, Tim Hubbard, T. Rahim, F.J. Lopez, Dalal K. Bubshait, Louise J. Jones, A. Giess, M.J. Welland, Susanne Motameny, Mehran Beiraghi Toosi, E. Williams, Barbara Vona, Arianna Tucci, K. Savage, Florence Molinari, Florence Riccardi, Mark J. Caulfield, I.U. Leong, M. Kayikci, Muhammad Jameel, Christian Beetz, A. Kousathanas, A. Siddiq, T. Fowler, Yun Li, Jozef Hertecant, M. Bleda, F. Maleady-Crowe, Birgit Budde, Sofia Douzgou, Wolfgang Höhne, C.A. Odhams, Laurent Villard, Janine Altmüller, S.R. Thompson, Lesley C. Adès, Christine Patch, Aboulfazl Rad, P. O’Donovan, A.C. Need, S. M. Wood, L. Lahnstein, L. Moutsianas, Büşranur Çavdarlı, Reza Maroofian, S. Henderson, Tobias Scherf de Almeida, D. Perez-Gil, Tipu Sultan, T. Rogers, Stephanie Efthymiou, Shazia Maqbool, G.C. Chan, A. Sosinsky, Jayne Antony, H. Brittain, R.H. Scott, Peter Nürnberg, Bernd Wollnik, Matthew Osmond

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01260-4⟩
Genomics England Research Consortium 2021, ' Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01260-4

مصطلحات موضوعية: 0301 basic medicine, In silico, Cadherin Related Proteins, Biology, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual Disability, Intellectual disability, medicine, Missense mutation, Humans, Genetics (clinical), Exome sequencing, Genetics, Progressive microcephaly, [SDV.GEN]Life Sciences [q-bio]/Genetics, medicine.disease, Cadherins, Human genetics, Pedigree, 030104 developmental biology, Phenotype, Neurodevelopmental Disorders, Mendelian inheritance, symbols, Microcephaly, Technology Platforms, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c59f5c4822ac8d7c57e3efbd28beeed
https://hal.archives-ouvertes.fr/hal-03322569

المؤلفون: Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)

مصطلحات موضوعية: Genetics, Lysine-tRNA Ligase, biology, Disease, biology.organism_classification, medicine.disease, Phenotype, Human genetics, Disease Models, Animal, Neurodevelopmental Disorders, medicine, Missense mutation, Autism, Animals, Humans, Allele, Hearing Loss, Zebrafish, Genetics (clinical), Gene knockout, Alleles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51
https://pubmed.ncbi.nlm.nih.gov/34172899

المؤلفون: David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, A. Giess, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, A. Orioli, C. Patch, D. Perez-Gil, M.B. Pereira, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, S.C. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, M. Tanguy, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson

المصدر: Genetics in Medicine
Blyth, M, Cox, H, Donnelly, D E, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, A, Rea, G, Robertson, L & Suri, M & Jackson, A P 2020, ' Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy ', Genetics in Medicine, vol. 23, no. 2, pp. 408–414 . https://doi.org/10.1038/s41436-020-00980-3

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Laminopathy, laminopathy, Biology, Brief Communication, Genome, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Exome, Genetics (clinical), Genetics, Progeria, Lamin Type B, primary microcephaly, Laminopathies, medicine.disease, Phenotype, neurodevelopmental disorder, 030104 developmental biology, LMNB1, LMNB2, Nuclear lamina, 030217 neurology & neurosurgery, Lamin

وصف الملف: text; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c3afeb46142409f18e86e168fe778a

المؤلفون: M. Zarowiecki, A. Devereau, S.M. Wood, J. M. Boissiere, G. Elgar, Cara Forster, Liesbeth Keldermans, A. Sieghart, Allyn McConkie-Rosell, Augusto Rendon, S. R. Thompson, D. Polychronopoulos, Alexandre Arkader, Julien Thevenon, D. Kasperaviciute, Alma Kuechler, Bryan L. Krock, Dominique Martin-Coignard, Damian Smedley, T. Rahim, Barbara Mikat, Amber Begtrup, Priya Prasad, Lindsay B. Henderson, A. Stuckey, Mathilde Nizon, Tim Hubbard, I. U. S. Leong, M. Bleda, L. Lahnstein, C. E. H. Craig, Bertrand Isidor, Sarah Leigh, Joanne Mason, L. Moutsianas, T. Fowler, A. Siddiq, J. Pullinger, Marco Angelozzi, J. Ambrose, S. A. Watters, Saadet Mercimek-Andrews, K. Lawson, Claudia A. L. Ruivenkamp, Ian D. Krantz, J. E. Holman, Solveig Heide, Christel Depienne, Elizabeth T. DeChene, L. C. Daugherty, Alvaro Serrano Russi, Arianna Tucci, Mark J. Caulfield, Marie T. McDonald, Boris Keren, A. C. Need, Damara Ortiz, Nicola Foulds, William Spooner, Dara Tolchin, Eduardo Calpena, C. R. Boustred, Abdul Haseeb, Rudolf Gorazd, Charles Coutton, Alona Sosinsky, D. Perez-Gil, Sarah Stewart, J. M. Hackett, Giada Melistaccio, Andrew O.M. Wilkie, Radka Stoeva, Cédric Le Caignec, Pauline Le Tanno, Benjamin Cogné, Martina Mueller, Naghmeh Dorrani, Pedro Furió-Tarí, Gijs W. E. Santen, Hermann-Josef Lüdecke, Jessica P. Yeager, Julian A. Martinez-Agosto, Damien Haye, Kieran B. Pechter, Mohnish Suri, Livija Medne, M. J. Welland, Patrick Reed, K. Savage, G. C. Chan, Anne C.H. Tsai, F. Maleady-Crowe, A. de Burca, Ellen M. McDonagh, T. Rogers, F. Boardman-Pretty, Emily Lancaster, Katherine R. Smith, Christopher A. Odhams, Véronique Lefebvre, M. Ryten, Olivier Pichon, D. Halai, Aleš Maver, Christine Patch, R. E. Foulger, Frédéric Bilan, Helen Stevens, Hilde Van Esch, Eleanor Williams, Brigitte Gilbert-Dussardier, C. Tregidgo, K. Witkowska, F. J. Lopez, Gwenaël Le Guyader, Richard H Scott, M. Kayikci, Ellen Thomas, E. Walsh

المصدر: American Journal of Human Genetics, 106(6), 830-845. CELL PRESS
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Osteochondroma, Adolescent, Transcription, Genetic, media_common.quotation_subject, Nonsense, Medizin, Active Transport, Cell Nucleus, Mutation, Missense, Biology, Cell fate determination, Translocation, Genetic, Article, Craniosynostosis, 03 medical and health sciences, Craniosynostoses, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Computer Simulation, Amino Acid Sequence, RNA-Seq, Child, Gene, Genetics (clinical), media_common, Base Sequence, Brain, Infant, Syndrome, medicine.disease, 030104 developmental biology, Attention Deficit Disorder with Hyperactivity, Neurodevelopmental Disorders, Child, Preschool, Genomic Structural Variation, Autism, Female, Haploinsufficiency, Transcriptome, SOXD Transcription Factors, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e4b2005e77addcf2aa011f8a987ba7
https://www.sciencedirect.com/science/article/pii/S0002929720301245?via=ihub

المؤلفون: P. Arumugam, I. Shui, J.M.G. Larkin, M. Pereira, Samra Turajlic, S. Mt-Isa, G. M. Hair, E. Scherrer, G. Chan, Kevin Litchfield, T. Rahim, K. Witkowska, Paul Lorigan, M. Zarowiecki

المصدر: Scherrer, E, Hair, G M, Mt-Isa, S, Pereira, M, Shui, I, Arumugam, P, Zarowiecki, M, Witkowska, K, Rahim, T, Turajlic, S, Litchfield, K R, Lorigan, P & Larkin, J 2020, ' 1136P Feasibility of linking the UK 100,000 genomes project and real-world evidence databases for a melanoma patient population ', Annals of Oncology, vol. 31, pp. S760-S761 . https://doi.org/10.1016/j.annonc.2020.08.1259

مصطلحات موضوعية: education.field_of_study, Melanoma patient, Manchester Cancer Research Centre, business.industry, ResearchInstitutes_Networks_Beacons/mcrc, Population, Hematology, Computational biology, Real world evidence, Genome, Oncology, Medicine, education, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69427b5460ad005a6a4d880138efe8c3
https://doi.org/10.1016/j.annonc.2020.08.1259

المؤلفون: Olle Melander, Niek Verweij, Uwe Völker, Morris A. Swertz, Seppo Koskinen, David Conen, Lars Lind, Rossella Sorice, Philippe Amouyel, Andres Metspalu, David J. Stott, Marty Larson, Francis S. Collins, Ozren Polasek, Paul F. O'Reilly, Albertine J. Oldehinkel, Evangelos Evangelou, Pekka Jousilahti, Michela Traglia, Tineka Blake, John Attia, Bruce M. Psaty, Massimo Mangino, Alison Pattie, Marco Brumat, Dorret I. Boomsma, Harry Campbell, Daniel I. Chasman, Tõnu Esko, Wei-Yu Lin, Rodney J. Scott, Marjo-Riitta Järvelin, Guillaume Paré, Adriana M. Hung, Marina Evangelou, Quang Tri Nguyen, Markus Perola, Kenneth Rice, Yong Qian, Antonietta Robino, Anne U. Jackson, Ian J. Deary, Mika Kähönen, Cristina Menni, Veronique Vitart, Igor Rudan, Ganesh Chauhan, Aravinda Chakravarti, Jennifer E. Huffman, John M. Starr, Anubha Mahajan, Christopher Newton-Cheh, Peter Almgren, Yuri Milaneschi, Jacklyn N. Hellwege, Roby Joehanes, Christopher P. Nelson, Eleftheria Zeggini, Elizabeth G. Holliday, Peter J. van der Most, Annette Peters, Paul M. Ridker, Michael Boehnke, Joris Deelen, Brenda W.J.H. Penninx, Neil Poulter, Renée de Mutsert, Rick Jansen, Fu Liang Ng, Anne-Claire Vergnaud, Ilja M. Nolte, Meixia Ren, Gail Davies, John M. C. Connell, Jian'an Luan, Todd L. Edwards, Benjamin Lehne, K. Witkowska, Lili Milani, Stéphanie Debette, Georgios Ntritsos, Claudia P. Cabrera, Paolo Gasparini, Jouke-Jan Hottenga, Antti-Pekka Sarin, Kelly Cho, Robert A. Scott, Veikko Salomaa, Niki Dimou, David C. Liewald, Pim van der Harst, Teemu J. Niiranen, Denis C. Shields, Leo-Pekka Lyytikäinen, Andrew P. Morris, Murielle Bochud, Helena Schmidt, Bernard Keavney, Christopher Oldmeadow, Ioanna Tzoulaki, Jaakko Tuomilehto, Louise V. Wain, Reedik Mägi, Christian Gieger, Caterina Barbieri, Aki S. Havulinna, Fabiola Del Greco M, Dragana Vuckovic, Alan F. Wright, J. Wouter Jukema, Reinhold Schmidt, Marcus Dörr, Franco Giulianini, Evan Tzanis, Erwin P. Bottinger, David Mosen-Ansorena, Ruth J. F. Loos, A. Mesut Erzurumluoglu, Teresa Nutile, Alice Stanton, Jun Ding, Yingchang Lu, Roberto Elosua, Walter Palmas, James F. Wilson, Edith Hofer, Giorgia Girotto, Bram P. Prins, Anna Morgan, Anuj Goel, Edward G. Lakatta, Alex S. F. Doney, Najaf Amin, Lenore J. Launer, Siim Sõber, Nicholas J. Wareham, Adam S. Butterworth, Ilaria Gandin, Xiuqing Guo, Kent D. Taylor, Andrew D. Morris, Paul Knekt, Cinzia Sala, Peter P. Pramstaller, Joshua C. Bis, Archie Campbell, Raha Pazoki, Hugh Watkins, Csaba P. Kovesdy, Yan V. Sun, Lynda M. Rose, Jaspal S. Kooner, Maciej Tomaszewski, Massimiliano Cocca, Claudia Langenberg, Gonneke Willemsen, Eco J. C. de Geus, Peter W.F. Wilson, Ahmad Vaez, Albert Hofman, Kristin L. Ayers, Sara M. Willems, Germaine C. Verwoert, Christophe Tzourio, Martin Farrall, Albert V. Smith, Joanna M. M. Howson, Daniela Toniolo, Digna R. Velez Edwards, Antti Jula, Stefan Enroth, Ruifang Li-Gao, Nabi Shah, Weihua Zhang, Paul Elliott, Dennis O. Mook-Kanamori, Tatijana Zemunik, Shih-Jen Hwang, Helen R. Warren, Peter J. Munson, He Gao, Ivana Kolcic, Peter S. Braund, Tamara B. Harris, Raymond Noordam, Stella Trompet, Markku Laakso, Peter K. Joshi, Zoltán Kutalik, Sébastien Thériault, Åsa Johansson, Rainer Rettig, Sarah H. Wild, Patricia B. Munroe, John Danesh, Anders Hamsten, Mark J. Caulfield, Gonçalo R. Abecasis, Praveen Surendran, Peter S. Sever, David S. Siscovick, Terho Lehtimäki, Priyanka Nandakumar, Aarno Palotie, Muralidharan Sargurupremraj, Chiara Batini, Nick Shrine, Harold Snieder, Cumhur Y Demirkale, Teresa Ferreira, André G. Uitterlinden, Sekar Kathiresan, Mattias Frånberg, Lorna M. Lopez, J. Michael Gaziano, Cornelia M. van Duijn, Maris Laan, Samuli Ripatti, John C. Chambers, Martin H. de Borst, Johan Sundström, Alan J. Gow, Caroline Hayward, Oscar H. Franco, Yongmei Liu, Sandosh Padmanabhan, Ibrahim Karaman, Georg Ehret, Cecilia M. Lindgren, Mike A. Nalls, Chrysovalanto Mamasoula, Daniela Ruggiero, Erik Ingelsson, Colin N. A. Palmer, Alan James, Elin Org, Kati Kristiansson, Alexander Teumer, Ulf Gyllensten, Joanne Knight, Vilmantas Giedraitis, Jerome I. Rotter, Yasaman Saba, Daniel Levy, Li Lin, Janina S. Ried, Michael R. Barnes, Harriëtte Riese, Andrew D. Johnson, David P. Strachan, Martin D. Tobin, Lorenz Risch, Rona J. Strawbridge, Jing Hua Zhao, Vilmundur Gudnason, Borbala Mifsud, Eric Boerwinkle, Catharina A. Hartman, Ben A. Oostra, Dan E. Arking, Andrew A. Hicks, Peter Vollenweider, Thibaud Boutin, Philip S. Tsao, Jie Yao, Ayush Giri, Marina Ciullo, Morris J. Brown, Alanna C. Morrison, Kay-Tee Khaw, Francesco Cucca, Jonathan Marten, Olli T. Raitakari, Christopher J. O'Donnell, Jaume Marrugat, Tim D. Spector, Heather J. Cordell, Nilesh J. Samani, Simon Thom, Sarah E. Harris

المساهمون: UNIVERSITY OF OULU, Commission of the European Communities, Home Office, Action on Hearing Loss, Imperial College Healthcare NHS Trust- BRC Funding, National Institute for Health Research, British Heart Foundation, Medical Research Council (MRC), UK DRI Ltd, Epidemiology, Internal Medicine, Lee Kong Chian School of Medicine (LKCMedicine), Biological Psychology, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Ehret, Georg Benedikt, Lin, Li, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Evangelou, Evangelo, Warren, Helen R, Mosen-Ansorena, David, Mifsud, Borbala, Pazoki, Raha, Gao, He, Ntritsos, Georgio, Dimou, Niki, Cabrera, Claudia P, Karaman, Ibrahim, Ng, Fu Liang, Evangelou, Marina, Witkowska, Katarzyna, Tzanis, Evan, Hellwege, Jacklyn N, Giri, Ayush, Velez Edwards, Digna R, Sun, Yan V, Cho, Kelly, Gaziano, J Michael, Wilson, Peter W F, Tsao, Philip S, Kovesdy, Csaba P, Esko, Tonu, Mägi, Reedik, Milani, Lili, Almgren, Peter, Boutin, Thibaud, Debette, Stéphanie, Ding, Jun, Giulianini, Franco, Holliday, Elizabeth G, Jackson, Anne U, Li-Gao, Ruifang, Lin, Wei-Yu, Luan, Jian'An, Mangino, Massimo, Oldmeadow, Christopher, Prins, Bram Peter, Qian, Yong, Sargurupremraj, Muralidharan, Shah, Nabi, Surendran, Praveen, Thériault, Sébastien, Verweij, Niek, Willems, Sara M, Zhao, Jing-Hua, Amouyel, Philippe, Connell, John, de Mutsert, Renée, Doney, Alex S F, Farrall, Martin, Menni, Cristina, Morris, Andrew D, Noordam, Raymond, Paré, Guillaume, Poulter, Neil R, Shields, Denis C, Stanton, Alice, Thom, Simon, Abecasis, Gonçalo, Amin, Najaf, Arking, Dan E, Ayers, Kristin L, Barbieri, Caterina M, Batini, Chiara, Bis, Joshua C, Blake, Tineka, Bochud, Murielle, Boehnke, Michael, Boerwinkle, Eric, Boomsma, Dorret I, Bottinger, Erwin P, Braund, Peter S, Brumat, Marco, Campbell, Archie, Campbell, Harry, Chakravarti, Aravinda, Chambers, John C, Chauhan, Ganesh, Ciullo, Marina, Cocca, Massimiliano, Collins, Franci, Cordell, Heather J, Davies, Gail, Borst, Martin H de, Geus, Eco J de, Deary, Ian J, Deelen, Jori, Del Greco M, Fabiola, Demirkale, Cumhur Yusuf, Dörr, Marcu, Ehret, Georg B, Elosua, Roberto, Enroth, Stefan, Erzurumluoglu, A Mesut, Ferreira, Teresa, Frånberg, Mattia, Franco, Oscar H, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmanta, Gieger, Christian, Girotto, Giorgia, Goel, Anuj, Gow, Alan J, Gudnason, Vilmundur, Guo, Xiuqing, Gyllensten, Ulf, Hamsten, Ander, Harris, Tamara B, Harris, Sarah E, Hartman, Catharina A, Havulinna, Aki S, Hicks, Andrew A, Hofer, Edith, Hofman, Albert, Hottenga, Jouke-Jan, Huffman, Jennifer E, Hwang, Shih-Jen, Ingelsson, Erik, James, Alan, Jansen, Rick, Jarvelin, Marjo-Riitta, Joehanes, Roby, Johansson, Åsa, Johnson, Andrew D, Joshi, Peter K, Jousilahti, Pekka, Jukema, J Wouter, Jula, Antti, Kähönen, Mika, Kathiresan, Sekar, Keavney, Bernard D, Khaw, Kay-Tee, Knekt, Paul, Knight, Joanne, Kolcic, Ivana, Kooner, Jaspal S, Koskinen, Seppo, Kristiansson, Kati, Kutalik, Zoltan, Laan, Mari, Larson, Marty, Launer, Lenore J, Lehne, Benjamin, Lehtimäki, Terho, Liewald, David C M, Lind, Lar, Lindgren, Cecilia M, Liu, Yongmei, Loos, Ruth J F, Lopez, Lorna M, Lu, Yingchang, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamasoula, Chrysovalanto, Marrugat, Jaume, Marten, Jonathan, Milaneschi, Yuri, Morgan, Anna, Morris, Andrew P, Morrison, Alanna C, Munson, Peter J, Nalls, Mike A, Nandakumar, Priyanka, Nelson, Christopher P, Niiranen, Teemu, Nolte, Ilja M, Nutile, Teresa, Oldehinkel, Albertine J, Oostra, Ben A, O'Reilly, Paul F, Org, Elin, Padmanabhan, Sandosh, Palmas, Walter, Palotie, Aarno, Pattie, Alison, Penninx, Brenda W J H, Perola, Marku, Peters, Annette, Polasek, Ozren, Pramstaller, Peter P, Nguyen, Quang Tri, Raitakari, Olli T, Ren, Meixia, Rettig, Rainer, Rice, Kenneth, Ridker, Paul M, Ried, Janina S, Riese, Harriëtte, Ripatti, Samuli, Robino, Antonietta, Rose, Lynda M, Rotter, Jerome I, Rudan, Igor, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia F, Salomaa, Veikko, Samani, Nilesh J, Sarin, Antti-Pekka, Schmidt, Reinhold, Schmidt, Helena, Shrine, Nick, Siscovick, David, Smith, Albert V, Snieder, Harold, Sõber, Siim, Sorice, Rossella, Starr, John M, Stott, David J, Strachan, David P, Strawbridge, Rona J, Sundström, Johan, Swertz, Morris A, Taylor, Kent D, Teumer, Alexander, Tobin, Martin D, Tomaszewski, Maciej, Toniolo, Daniela, Traglia, Michela, Trompet, Stella, Tuomilehto, Jaakko, Tzourio, Christophe, Uitterlinden, André G, Vaez, Ahmad, van der Most, Peter J, van Duijn, Cornelia M, Vergnaud, Anne-Claire, Verwoert, Germaine C, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Vuckovic, Dragana, Watkins, Hugh, Wild, Sarah H, Willemsen, Gonneke, Wilson, James F, Wright, Alan F, Yao, Jie, Zemunik, Tatijana, Zhang, Weihua, Attia, John R, Butterworth, Adam S, Chasman, Daniel I, Conen, David, Cucca, Francesco, Danesh, John, Hayward, Caroline, Howson, Joanna M M, Laakso, Markku, Lakatta, Edward G, Langenberg, Claudia, Melander, Olle, Mook-Kanamori, Dennis O, Palmer, Colin N A, Risch, Lorenz, Scott, Robert A, Scott, Rodney J, Sever, Peter, Spector, Tim D, van der Harst, Pim, Wareham, Nicholas J, Zeggini, Eleftheria, Levy, Daniel, Munroe, Patricia B, Newton-Cheh, Christopher, Brown, Morris J, Metspalu, Andre, Hung, Adriana M, O'Donnell, Christopher J, Edwards, Todd L, Psaty, Bruce M, Tzoulaki, Ioanna, Barnes, Michael R, Wain, Louise V, Elliott, Paul, Caulfield, Mark J, Groningen Kidney Center (GKC), Lifestyle Medicine (LM), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Cardiovascular Centre (CVC), Groningen Institute for Organ Transplantation (GIOT), VU University medical center, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, APH - Digital Health, Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics, Research Programme of Molecular Medicine, Research Programs Unit, Aarno Palotie / Principal Investigator, University of Helsinki, Clinicum, Samuli Olli Ripatti / Principal Investigator, Biostatistics Helsinki, Department of Public Health, Complex Disease Genetics, Genomics of Neurological and Neuropsychiatric Disorders

المصدر: Nature Genetics
Nature Genetics, 50(10), 1412-+. Nature Publishing Group
Nature genetics (Online) 50 (2018): 1412–1425. doi:10.1038/s41588-018-0205-x
info:cnr-pdr/source/autori:Evangelou E.; Warren H.R.; Mosen-Ansorena D.; Mifsud B.; Pazoki R.; Gao H.; Ntritsos G.; Dimou N.; Cabrera C.P.; Karaman I.; Ng F.L.; Evangelou M.; Witkowska K.; Tzanis E.; Hellwege J.N.; Giri A.; Velez Edwards D.R.; Sun Y.V.; Cho K.; Gaziano J.M.; Wilson P.W.F.; Tsao P.S.; Kovesdy C.P.; Esko T.; Magi R.; Milani L.; Almgren P.; Boutin T.; Debette S.; Ding J.; Giulianini F.; Holliday E.G.; Jackson A.U.; Li-Gao R.; Lin W.-Y.; Luan J.; Mangino M.; Oldmeadow C.; Prins B.P.; Qian Y.; Sargurupremraj M.; Shah N.; Surendran P.; Theriault S.; Verweij N.; Willems S.M.; Zhao J.-H.; Amouyel P.; Connell J.; de Mutsert R.; Doney A.S.F.; Farrall M.; Menni C.; Morris A.D.; Noordam R.; Pare G.; Poulter N.R.; Shields D.C.; Stanton A.; Thom S.; Abecasis G.; Amin N.; Arking D.E.; Ayers K.L.; Barbieri C.M.; Batini C.; Bis J.C.; Blake T.; Bochud M.; Boehnke M.; Boerwinkle E.; Boomsma D.I.; Bottinger E.P.; Braund P.S.; Brumat M.; Campbell A.; Campbell H.; Chakravarti A.; Chambers J.C.; Chauhan G.; Ciullo M.; Cocca M.; Collins F.; Cordell H.J.; Davies G.; Borst M.H.; Geus E.J.; Deary I.J.; Deelen J.; Del Greco M F.; Demirkale C.Y.; Dorr M.; Ehret G.B.; Elosua R.; Enroth S.; Erzurumluoglu A.M.; Ferreira T.; Franberg M.; Franco O.H.; Gandin I.; Gasparini P.; Giedraitis V.; Gieger C.; Girotto G.; Goel A.; Gow A.J.; Gudnason V.; Guo X.; Gyllensten U.; Hamsten A.; Harris T.B.; Harris S.E.; Hartman C.A.; Havulinna A.S.; Hicks A.A.; Hofer E.; Hofman A.; Hottenga J.-J.; Huffman J.E.; Hwang S.-J.; Ingelsson E.; James A.; Jansen R.; Jarvelin M.-R.; Joehanes R.; Johansson A.; Johnson A.D.; Joshi P.K.; Jousilahti P.; Jukema J.W.; Jula A.; Kahonen M.; Kathiresan S.; Keavney B.D.; Khaw K.-T.; Knekt P.; Knight J.; Kolcic I.; Kooner J.S.; Koskinen S.; Kristiansson K.; Kutalik Z.; Laan M.; Larson M.; Launer L.J.; Lehne B.; Lehtimaki T.; Liewald D.C.M.; Lin L.; Lind L.; Lindgren C.M.; Liu Y.M.; Loos R.J.F.; Lopez L.M.; Lu Y.; Lyytikainen L.-P.; Mahajan A.; Mamasoula C.; Marrugat J.; Marten J.; Milaneschi Y.; Morgan A.; Morris A.P.; Morrison A.C.; Munson P.J.; Nalls M.A.; Nandakumar P.; Nelson C.P.; Niiranen T.; Nolte I.M.; Nutile T.; Oldehinkel A.J.; Oostra B.A.; O'Reilly P.F.; Org E.; Padmanabhan S.; Palmas W.; Palotie A.; Pattie A.; Penninx B.W.J.H.; Perola M.; Peters A.; Polasek O.; Pramstaller P.P.; Nguyen Q.T.; Raitakari O.T.; Ren M.; Rettig R.; Rice K.; Ridker P.M.; Ried J.S.; Riese H.; Ripatti S.; Robino A.; Rose L.M.; Rotter J.I.; Rudan I.; Ruggiero D.; Saba Y.; Sala C.F.; Salomaa V.; Samani N.J.; Sarin A.-P.; Schmidt R.; Schmidt H.; Shrine N.; Siscovick D.; Smith A.V.; Snieder H.; Sober S.; Sorice R.; Starr J.M.; Stott D.J.; Strachan D.P.; Strawbridge R.J.; Sundstrom J.; Swertz M.A.; Taylor K.D.; Teumer A.; Tobin M.D.; Tomaszewski M.; Toniolo D.; Traglia M.; Trompet S.; Tuomilehto J.; Tzourio C.; Uitterlinden A.G.; Vaez A.; van der Most P.J.; van Duijn C.M.; Vergnaud A.-C.; Verwoert G.C.; Vitart V.; Volker U.; Vollenweider P.; Vuckovic D.; Watkins H.; Wild S.H.; Willemsen G.; Wilson J.F.; Wright A.F.; Yao J.; Zemunik T.; Zhang W.; Attia J.R.; Butterworth A.S.; Chasman D.I.; Conen D.; Cucca F.; Danesh J.; Hayward C.; Howson J.M.M.; Laakso M.; Lakatta E.G.; Langenberg C.; Melander O.; Mook-Kanamori D.O.; Palmer C.N.A.; Risch L.; Scott R.A.; Scott R.J.; Sever P.; Spector T.D.; van der Harst P.; Wareham N.J.; Zeggini E.; Levy D.; Munroe P.B.; Newton-Cheh C.; Brown M.J.; Metspalu A.; Hung A.M.; O'Donnell C.J.; Edwards T.L.; Psaty B.M.; Tzoulaki I.; Barnes M.R.; Wain L.V.; Elliott P.; Caulfield M.J./titolo:Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits/doi:10.1038%2Fs41588-018-0205-x/rivista:Nature genetics (Online)/anno:2018/pagina_da:1412/pagina_a:1425/intervallo_pagine:1412–1425/volume:50
Nature Genetics, 50(10), 1412-1431. Nature Publishing Group
Nature Genetics, Vol. 50, No 10 (2018) pp. 1412-1425
Keavney, B, Tomaszewski, M, Morris, A & et al 2018, ' Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits ', Nature Genetics, vol. 50, no. 10, pp. 1412-1425 . https://doi.org/10.1038/s41588-018-0205-x
Boomsma, D I, de Geus, E J C, Hottenga, J J, Willemsen, G & the Million Veteran Program 2018, ' Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits ', Nature Genetics, vol. 50, no. 10, pp. 1412-1431 . https://doi.org/10.1038/s41588-018-0205-x
the Million Veteran Program 2018, ' Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits ', Nature Genetics, vol. 50, no. 10, pp. 1412-1425 . https://doi.org/10.1038/s41588-018-0205-x
Nature Genetics, Nature Publishing Group, 2018, 50 (10), pp.1412-1425. ⟨10.1038/s41588-018-0205-x⟩
Nature Genetics, 50(10), 1412
Nature Genetics, 50(10), 1412-1425. Nature Publishing Group
Evangelou, E, Warren, H R, Mosen-Ansorena, D, Mifsud, B, Pazoki, R, Gao, H, Ntritsos, G, Dimou, N, Cabrera-Cardenas, C, Karaman, I, Liang Ng, F, Evangelou, M, Witkowska, K, Tzanis, E, Hellwege, J N, Giri, A, Velez Edwards, D R, Sun, Y V, Cho, K, Gaziano, J M, Wilson, P W F, Tsao, P S, Kovesdy, C P, Esko, T, Mägi, R, Milani, L, Almgren, P, Boutin, T, Debette, S, Ding, J, Giulianini, F, Holliday, E G, Jackson, A U, Li-Gao, R, Lin, W-Y, Luan, J, Mangino, M, Oldmeadow, C, Prins, B P, Qian, Y, Sargurupremraj, M, Shah, N, Surendran, P, Theriault, S, Verweij, N, Willems, S M, Zhao, J H, Amouyel, P, Connell, J M C, de Mutsert, R, Doney, A S F, Farrall, M, Menni, C, Morris, A, Noordam, R, Paré, G, Poulter, N R, Shields, D C, Stanton, A V, Thom, S, Abecasis, G R, Amin, N, Arking, D E, Ayers, K L, Barbieri, C M, Batini, C, Bis, J C, Blake, T, Bochud, M, Boehnke, M, Boerwinkle, E, Boomsma, D I, Bottinger, E P, Braund, P S, Brumat, M, Campbell, A, Campbell, H, Chakravarti, A, Chambers, J C, Chauhan, G, Ciullo, M, Cocca, M, Collins, F S, Cordell, H J, Davies, G, de Borst, M H, Geus, E J C, Deary, I, Deelen, J, Del Greco, F M, Demirkale, Y, Dörr, M, Ehret, G B, Elosua, R, Enroth, S, Erzurumluoglu, A M, Ferreira, T, Frånberg, M, Franco, O H, Gandin, I, Gasparini, P, Giedraitis, V, Gieger, C, Girotto, G, Goel, A, Gow, A J, Gudnason, V, Guo, X, Gyllensten, U, Hamsten, A, Harris, T B, Harris, S, Hartman, C A, Havulinna, A S, Hicks, A A, Hofer, E, Hofman, A, Hottenga, J-J, Huffman, J E, Hwang, S-J, Ingelsson, E, James, A L, Jansen, R, Jarvelin, M-R, Joehanes, R, Johansson, Å, Johnson, A D, Joshi, P, Jousilahti, P, Jukema, J W, Jula, A, Kähönen, M, Kathiresan, S, Keavney, B D, Khaw, K T, Knekt, P, Knight, J, Kolcic, I, Kooner, J S, Koskinen, S, Kristiansson, K, Kutalik, Z, Laan, M, Larson, M, Launer, L J, Lehne, B, Lehtimäki, T, Liewald, D, Lin, L, Lind, L, Lindgren, C M, Liu, Y, Loos, R J, Lopez, L, Lu, Y, Lyytikäinen, L-P, Mahajan, A, Mamasoula, C, Marrugat, J, Marten, J, Milaneschi, Y, Morgan, A, Morris, A P, Morrison, A C, Munson, P J, Nalls, M A, Nandakumar, P, Nelson, C P, Niiranen, T, Nolte, I M, Nutile, T, Oldehinkel, A J, Oostra, B A, O'Reilly, P F, Org, E, Padmanabhan, S, Palmas, W, Palotie, A, Pattie, A, Penninx, B W J H, Perola, M, Peters, A, Polasek, O, Pramstaller, P P, Tri Nguyen, Q, Raitakari, O T, Ren, M, Rettig, R, Rice, K M, Ridker, P M, Ried, J S, Riese, H, Ripatti, S, Robino, A, Rose, L M, Rotter, J I, Rudan, I, Ruggiero, D, Saba, Y, Sala, C F, Salomaa, V, Samani, N J, Sarin, A-P, Schmidt, R, Schmidt, H, Shrine, N R G, Siscovick, D S, Smith, A V, Snieder, H, Sõber, S, Sorice, R, Starr, J, Stott, D J, Strachan, D P, Strawbridge, R J, Sundstrom, J, Swertz, M A, Taylor, K D, Teumer, A, Tobin, M D, Tomaszewski, M, Toniolo, D, Traglia, M, Trompet, S, Tuomilehto, J, Tzourio, C, Uitterlinden, A G, Vaez, A, van der Most, P J, van Duijn, C M, Vergnaud, A-C, Verwoert, G C, Vitart, V, Völker, U, Vollenweider, P, Vuckovic, D, Watkins, H, Wild, S, Willemsen, G, Wilson, J, Wrightl, A F, Yao, J, Zemunik, T, Zhang, W, Attia, J, Butterworth, A S, Chasman, D I, Conen, D, Cucca, F, Danesh, J, Hayward, C, Howson, J MM, Laakso, M, Lakatta, E G, Langenberg, C, Melander, O, Mook-Kanamori, D O, Palmer, C N A, Risch, L, Scott, R A, Scott, R J, Sever, P, Spector, T D, van der Harst, P, Wareham, N J, Zeggini, E, Levy, D, Munroe, P B, Newton-Cheh, C, Brown, M J, Metspalu, A, Hung, A M, O'Donnell, C J, Edwards, T L, Psaty, B M, Tzoulaki, I, Barnes, M R, Wain, L V, Elliott, P & Caulfield, M J 2018, ' Genetic analysis of over one million people identifies 535 new loci associated with blood pressure traits ', Nature Genetics, vol. 50, pp. 1412–1425 . https://doi.org/10.1038/s41588-018-0205-x
Nat Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Netherlands Twin Register (NTR), Population/methods, Genome Informatics, Blood Pressure, Genome-wide association study, GENOME-WIDE ASSOCIATION, CARDIOVASCULAR-DISEASE RISK, UK BIOBANK, HYPERTENSION, VARIANTS, METAANALYSIS, COMMON, HEALTH, RARE, HYPERALDOSTERONISM, Disease, Bioinformatics, Cardiovascular Diseases/epidemiology/genetics, Risk Factors, 80 and over, GWAS, Cells, Cultured, 11 Medical and Health Sciences, ddc:616, Genetics & Heredity, Aged, 80 and over, Cultured, medicine.diagnostic_test, CARDIOVASCULAR RISK, Genetic analysis, Million Veteran Program, Genetics, Population/methods, Single Nucleotide, Middle Aged, PREVALENCE, 3. Good health, Pulse pressure, VINTAGE, Cardiovascular Diseases, Blood pressure, Medical genetics, Female, Medical Genetics, Life Sciences & Biomedicine, Genetic Testing/methods, Adult, medicine.medical_specialty, Blood Pressure/genetics, Cells, Quantitative Trait Loci, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Human Umbilical Vein Endothelial Cells, Genetics, medicine, Humans, Medicine [Science], Genetic Predisposition to Disease, Genetic Testing, Polymorphism, HEALTHY, Life Style, Medicinsk genetik, Aged, Genetic testing, Genetic association, Science & Technology, Cardiovascular Diseases/epidemiology, 06 Biological Sciences, Genetic architecture, Genetics, Population, 030104 developmental biology, Genetic Loci, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, 3111 Biomedicine, Hypertension/genetics, Genome-Wide Association Study, Developmental Biology

وصف الملف: application/pdf; text; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1a06251cd994facd1a491f245b8b67
https://doi.org/10.1038/s41588-018-0205-x

المؤلفون: Lorenz Risch, Anne-Claire Vergnaud, Nguyen Quang Tri, Rona J. Strawbridge, Alan F. Wright, Francesco Cucca, Evan Tzanis, Caterina Barbieri, Jaakko Tuomilehto, Louise V. Wain, Jonathan Marten, James F. Wilson, Christopher Newton-Cheh, Reedik Mägi, Olli T. Raitakari, Peter W.F. Wilson, Joris Deelen, Morris Brown, Anna Morgan, Nabi Shah, Weihua Zhang, Ganesh Chauhan, Gail Davies, Peter S. Braund, Bram P. Prins, Alison Pattie, Marcus Dörr, Zoltán Kutalik, Marco Brumat, Franco Giulianini, Rainer Rettig, Uwe Völker, Georgios Ntritsos, Teresa Nutile, Todd L. Edwards, Albertine J. Oldehinkel, Christopher J. O'Donnell, Jaume Marrugat, Evangelos Evangelou, Nilesh J. Samani, Pekka Jousilahti, Dorret I. Boomsma, Harry Campbell, Francis S. Collins, Tim D. Spector, Simon Thom, Sarah E. Harris, Heather J. Cordell, Helen R. Warren, Cinzia Sala, Peter P. Pramstaller, Seppo Koskinen, Paul F. O'Reilly, Aravinda Chakravarti, Joshua C. Bis, Archie Campbell, Bernard Keavney, Sébastien Thériault, Gonneke Willemsen, Lynda M. Rose, Massimiliano Cocca, Jennifer E. Huffman, Meixia Ren, Massimo Mangino, Markus Perola, Joanna M. M. Howson, David Mosen-Ansorena, Harriëtte Riese, Martin Farrall, Albert V. Smith, Lenore J. Launer, Marina Ciullo, Antti-Pekka Sarin, Veikko Salomaa, Ilaria Gandin, Kent D. Taylor, Peter S. Sever, Markku Laakso, André G. Uitterlinden, Yan V. Sun, Raymond Noordam, Renée de Mutsert, Alan L. James, Jing Hua Zhao, Stefan Enroth, Andrew D. Morris, David S. Siscovick, Andrew D. Johnson, Igor Rudan, Tõnu Esko, Jun Ding, David P. Strachan, Martin D. Tobin, Christopher P. Nelson, Daniela Toniolo, J. Wouter Jukema, Vilmundur Gudnason, Borbala Mifsud, Marty Larson, Andrew A. Hicks, Adriana M. Hung, Antonietta Robino, Ruifang Li-Gao, Paul Elliott, Anne U. Jackson, Michela Traglia, Martin H. de Borst, Germaine C. Verwoert, Rheinhold Schmidt, Fabiola M Del Greco, Åsa Johansson, Anders Hamsten, Csaba P. Kovesdy, Mark J. Caulfield, Cumhur Y Demirkale, John M. C. Connell, Jian'an Luan, K. Witkowska, Georg Ehret, Cecilia M. Lindgren, Oscar H. Franco, Yongmei Liu, Ioanna Tzoulaki, Eric Boerwinkle, Catharina A. Hartman, Muralidharan Sargurupremraj, Claudia Langenberg, J. Michael Gaziano, Peter K. Joshi, Cornelia M. van Duijn, Maris Laan, Nick Shrine, Peter J. van der Most, Michael Boehnke, Leo-Pekka Lyytikäinen, Samuli Ripatti, Ben A. Oostra, Robert A. Scott, Lingchan Lu, Edward G. Lakatta, Yasaman Saba, Daniel Levy, Li Lin, Harold Schneider, Alex S. F. Doney, Michael R. Barnes, Najaf Amin, Hugh Watkins, Paul M. Ridker, Janina S Reid, Ayush Giri, Sekar Kathiresan, Lorna M. Lopez, Mike A. Nalls, Marina Evangelou, Erik Ingelsson, Lili Milani, Alice Stanton, Ozren Polasek, Sara M. Willems, Colin N. A. Palmer, Stéphanie Debette, Dan E. Arking, Helena Schmidt, Paul Knekt, John M. Starr, Yong Qian, Cristina Menni, Yuri Milaneschi, Christophe Tzourio, Tamara B. Harris, Kristin L. Ayers, Peter Vollenweider, Paolo Gasparini, Dennis O. Mook-Kanamori, Rodney J. Scott, Sandosh Padmanabhan, Anubha Mahajan, Peter Almgren, Jacklyn N. Hellwege, Teemu J. Niiranen, Mika Kähönen, Shih-Jen Hwang, Elizabeth G. Holliday, Edith Hofer, Priyanka Nandakumar, Peter J. Munson, Rick Jansen, Andrew P. Morris, Walter Palmas, Ilja M. Nolte, Siim Sõber, Thibaud Boutin, Ahmad Vaez, Albert Hofman, He Gao, Brenda W.J.H. Penninx, Neil Poulter, Alan J. Gow, Caroline Hayward, Nicholas J. Wareham, Elin Org, Philip S. Tsao, Claudia P. Cabrera, Aki S. Havulinna, Dragana Vuckovic, Kelly Cho, Jie Yao, Lars Lind, Jerome I. Rotter, David J. Stott, Ivana Kolcic, Wei-Yu Lin, Tatijana Zemunik, Tineka Blake, Kenneth Rice, Veronique Vitart, Alanna C. Morrison, Kay-Tee Khaw, Marjo-Riitta Järvelin, Guillaume Paré, Jouke-Jan Hottenga, Giorgia Girotto, Chiara Batini, Niki Dimou, Stella Trompet, John Danesh, Annette Peters, Alexander Teumer, Ulf Gyllensten, Joanne Knight, Vilmantas Giedraitis, Morris A. Swertz, Jaspal S. Kooner, Niek Verweij, Ibrahim Karaman, Murielle Bochud, Christian Gieger, Ruth J. F. Loos, Daniella Ruggiero, Arno Palotie, David Conen, Raha Pazoki, Denis C. Shields, Rossella Sorice, Philippe Amouyel, Gonçalo R. Abecasis, Andres Metspalu, John Attia, Bruce M. Psaty, Sarah H. Wild, Patricia B. Munroe, Daniel I. Chasman, Ollie Melander, John C. Chambers, Roby Joehanes, Eleftheria Zeggini, Johan Sundström, Chrysovalanto Mamasoula, Benjamin Lehne, Kati Kristiansson, Christopher Oldmeadow, Eco J. C. de Geus, A. Mesut Erzurumluoglu, Anuj Goel, Adam S. Butterworth, Digna R. Velez Edwards, Xiuqing Guo, Antti Jula, Praveen Surendran, Terho Lehtimäki, Mattias Frånberg, Teresa Ferreira, Ian J. Deary, David C. Liewald, Pim van der Harst, Erwin P. Bottinger, Roberto Elosua, Fu Liang Ng

مصطلحات موضوعية: Genetics, 0303 health sciences, Diastole, Disease, 030204 cardiovascular system & hematology, Biology, Precision medicine, Genetic analysis, 3. Good health, Pulse pressure, 03 medical and health sciences, 0302 clinical medicine, Blood pressure, Disease prevention, 030304 developmental biology, Genetic association

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::177fd06aad5820b16b3e32aea0701206
https://doi.org/10.1101/198234

المؤلفون: Aravinda Chakravarti, Jennifer E. Huffman, Meixia Ren, Veikko Salomaa, Christopher Newton-Cheh, Johan Sundström, Alan L. James, Joris Deelen, Raha Pazoki, Michela Traglia, Tõnu Esko, Seppo Koskinen, Christopher J. O'Donnell, Csaba P. Kovesdy, Daniel I. Chasman, Paul F. O'Reilly, Roby Joehanes, Paul M. Ridker, G. Abecasis, Lars Lind, Dragana Vuckovic, Yingchang Lu, Antonietta Robino, Anders Hamsten, Muralidharan Sargurupremraj, Caterina Barbieri, Anne U. Jackson, Anna Morgan, Claudia Langenberg, Peter S. Braund, Rainer Rettig, Murielle Bochud, Vilmundur Gudnason, Eleftheria Zeggini, David J. Stott, Joop Jukema, Nick Shrine, Jun Ding, Olle Melander, Massimo Mangino, Borbala Mifsud, Frank H. Collins, Liewald Dcm., Tineka Blake, Peter K. Joshi, Yan V. Sun, Aarno Palotie, Maciej Tomaszewski, Jarvelin M-R., Kati Kristiansson, L. J. Launer, Sara M. Willems, Ian J. Deary, Christophe Tzourio, Alan J. Gow, Caroline Hayward, Guillaume Paré, Christopher Oldmeadow, John M. Starr, Paul Elliott, Morris A. Swertz, C M van Duijn, Sekar Kathiresan, Lorna M. Lopez, Neil R Poulter, Mike A. Nalls, Erik Ingelsson, Eric Boerwinkle, Catharina A. Hartman, Giorgia Girotto, Ben A. Oostra, Markus Perola, Paul Knekt, Lyytikäinen L-P., T.B. Harris, J. C. Bis, Harriëtte Riese, J. Marrugat, Samuli Ripatti, Howson Jmm., Archie Campbell, C M Lindgren, Adam S. Butterworth, Xiuqing Guo, Lin W-Y., Priyanka Nandakumar, David Mosen-Ansorena, Alison Pattie, Marco Brumat, Annette Peters, Georgios Ntritsos, Ivana Kolcic, Alexander Teumer, Ulf Gyllensten, Joanne Knight, Stella Trompet, K. Witkowska, Hottenga J-J., Tim D. Spector, Maris Laan, Vilmantas Giedraitis, Bram P. Prins, Loos Rjf., M. H. de Borst, Antti Jula, Lynda M. Rose, Massimiliano Cocca, Daniela Toniolo, Igor Rudan, P. J. van der Most, Fu Liang Ng, Heather J. Cordell, Walter Palmas, John Danesh, John Attia, Dan E. Arking, Ganesh Chauhan, C Gieger, P. van der Harst, Penninx Bwjh., Kristin L. Ayers, Germaine C. Verwoert, Bruce M. Psaty, Jaspal S. Kooner, Ruifang Li-Gao, Benjamin Lehne, Khaw K-T., Sandosh Padmanabhan, Franco Giulianini, Erwin P. Bottinger, Roberto Elosua, Christopher P. Nelson, Ozren Polasek, D.R. Velez Edwards, Martin Farrall, Ioanna Tzoulaki, Peter Vollenweider, Uwe Völker, Albertine J. Oldehinkel, Åsa Johansson, Helen R. Warren, Evan Tzanis, Albert V. Smith, Hwang S-J., Teresa Ferreira, E.J.C. de Geus, Evangelos Evangelou, Niek Verweij, R. J. Scott, Pekka Jousilahti, Elin Org, Stefan Enroth, Dorret I. Boomsma, Harry Campbell, Andrew D. Johnson, David Conen, James F. Wilson, Edward G. Lakatta, Anuj Goel, Raymond Noordam, Najaf Amin, David P. Strachan, Martin D. Tobin, Francesco Cucca, Doney Asf., Todd L. Edwards, Jerome I. Rotter, Mika Kähönen, Hugh Watkins, Rossella Sorice, John M. C. Connell, David S. Siscovick, Sébastien Thériault, Jian'an Luan, Marty Larson, Philippe Amouyel, A C Morrison, Louise V. Wain, Reedik Mägi, Jonathan Marten, Thibaud Boutin, Nabi Shah, Weihua Zhang, Palmer Cna., Daniela Ruggiero, Zhao J-H., Olli T. Raitakari, Bernard Keavney, Peter S. Sever, Philip S. Tsao, Jie Yao, André G. Uitterlinden, Marina Evangelou, Zoltán Kutalik, Robert A. Scott, Helena Schmidt, J. Tuomilehto, Nilesh J. Samani, Quang Tri Nguyen, John Michael Gaziano, Georg Ehret, Praveen Surendran, Terho Lehtimäki, Mark J. Caulfield, Denis C. Shields, Rick Jansen, Sarin A-P., Alice Stanton, Mattias Frånberg, Cumhur Y Demirkale, Stéphanie Debette, Paolo Gasparini, Ilaria Gandin, Simon Thom, Kent D. Taylor, Andrew D. Morris, Claudia P. Cabrera, Teemu J. Niiranen, Nicholas J. Wareham, Andrew P. Morris, Yasaman Saba, Daniel Levy, Aki S. Havulinna, Kelly Cho, Sarah E. Harris, Li Lin, Janina S. Ried, Michael R. Barnes, Sarah H. Wild, Patricia B. Munroe, Vergnaud A-C., Lorenz Risch, Rona J. Strawbridge, Y. Milaneschi, John C. Chambers, Yong Qian, Cristina Menni, Anubha Mahajan, Peter Almgren, Gary Davies, Jacklyn N. Hellwege, Elizabeth G. Holliday, A. Metspalu, Ilja M. Nolte, Peter J. Munson, He Gao, Marcus Dörr, Cinzia Sala, Peter P. Pramstaller, Teresa Nutile, Wilson Pwf., Gonneke Willemsen, Markku Laakso, Chiara Batini, Harold Snieder, Ibrahim Karaman, Adriana M. Hung, Reinhold Schmidt, R. de Mutsert, Michael Boehnke, Lili Milani, Alan F. Wright, Edith Hofer, Siim Sõber, Ahmad Vaez, Albert Hofman, Oscar H. Franco, Yongmei Liu, Tatijana Zemunik, Kenneth Rice, Veronique Vitart, Marina Ciullo, Niki Dimou, Morris J. Brown, Crysovalanto Mamasoula, A.M. Erzurumluoglu, Andrew A. Hicks, Ayush Giri, Dennis O. Mook-Kanamori

المساهمون: Home Office, UNIVERSITY OF OULU, Commission of the European Communities, Medical Research Council (MRC), Action on Hearing Loss, British Heart Foundation, National Institute for Health Research, Imperial College Healthcare NHS Trust- BRC Funding, UK DRI Ltd

المصدر: the Million Veteran Program 2018, ' Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits ', Nature Genetics, vol. 50, no. 12, pp. 1755-1755 . https://doi.org/10.1038/s41588-018-0297-3

مصطلحات موضوعية: Genetics & Heredity, 0301 basic medicine, Netherlands Twin Register (NTR), Science & Technology, computer.internet_protocol, Million Veteran Program, Genome-wide association study, Computational biology, 06 Biological Sciences, Biology, Genetic analysis, 03 medical and health sciences, 030104 developmental biology, Genetics, Genome informatics, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Life Sciences & Biomedicine, computer, 11 Medical and Health Sciences, XML, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908fa585924db1882b831713ad88d273
http://www.scopus.com/inward/record.url?scp=85056722857&partnerID=8YFLogxK

المؤلفون: P. Surendran, F. Drenos, R. Young, H. Warren, J. P. Cook, A. K. Manning, N. Grarup, X. Sim, D. R. Barnes, K. Witkowska, J. R. Staley, V. Tragante, T. Tukiainen, H. Yaghootkar, N. Masca, D. F. Freitag, T. Ferreira, O. Giannakopoulou, A. Tinker, M. Harakalova, E. Mihailov, C. Liu, A. T. Kraja, S. F. Nielsen, A. Rasheed, M. Samuel, W. Zhao, L. L. Bonnycastle, A. U. Jackson, N. Narisu, A. J. Swift, L. Southam, J. Marten, J. R. Huyghe, A. Stančáková, C. Fava, T. Ohlsson, A. Matchan, K. E. Stirrups, J. Bork-Jensen, A. P. Gjesing, J. Kontto, M. Perola, S. Shaw-Hawkins, A. S. Havulinna, H. Zhang, L. A. Donnelly, C. J. Groves, N. W. Rayner, M. J. Neville, N. R. Robertson, A. M. Yiorkas, K. H. Herzig, E. Kajantie, W. Zhang, S. M. Willems, L. Lannfelt, G. Malerba, N. Soranzo, E. Trabetti, N. Verweij, E. Evangelou, A. Moayyeri, A. C. Vergnaud, C. P. Nelson, A. Poveda, T. V. Varga, M. Caslake, A. J. de Craen, S. Trompet, J. Luan, R. A. Scott, S. E. Harris, D. C. Liewald, R. Marioni, C. Menni, A. E. Farmaki, G. Hallmans, F. Renström, J. E. Huffman, M. Hassinen, S. Burgess, R. S. Vasan, J. F. Felix, M. Uria-Nickelsen, A. Malarstig, D. F. Reilly, M. Hoek, T. F. Vogt, H. Lin, W. Lieb, M. Traylor, H. S. Markus, H. M. Highland, A. E. Justice, E. Marouli, J. Lindström, M. Uusitupa, P. Komulainen, T. A. Lakka, R. Rauramaa, O. Polasek, I. Rudan, O. Rolandsson, P. W. Franks, G. Dedoussis, T. D. Spector, P. Jousilahti, S. Männistö, I. J. Deary, J. M. Starr, C. Langenberg, N. J. Wareham, M. J. Brown, A. F. Dominiczak, J. M. Connell, J. W. Jukema, N. Sattar, I. Ford, C. J. Packard, T. Esko, R. Mägi, A. Metspalu, R. A. de Boer, P. van der Meer, P. van der Harst, G. Gambaro, E. Ingelsson, L. Lind, P. I. de Bakker, M. E. Numans, I. Brandslund, C. Christensen, E. R. Petersen, E. Korpi-Hyövälti, H. Oksa, J. C. Chambers, J. S. Kooner, A. I. Blakemore, S. Franks, M. R. Jarvelin, L. L. Husemoen, A. Linneberg, T. Skaaby, B. Thuesen, F. Karpe, J. Tuomilehto, A. S. Doney, A. D. Morris, C. N. Palmer, O. L. Holmen, K. Hveem, C. J. Willer, T. Tuomi, L. Groop, A. Käräjämäki, A. Palotie, S. Ripatti, V. Salomaa, D. S. Alam, A. A. Majumder, E. Di Angelantonio, R. Chowdhury, M. I. McCarthy, N. Poulter, A. V. Stanton, P. Sever, P. Amouyel, D. Arveiler, S. Blankenberg, J. Ferrières, F. Kee, K. Kuulasmaa, M. Müller-Nurasyid, G. Veronesi, J. Virtamo, P. Deloukas, P. Elliott, E. Zeggini, S. Kathiresan, O. Melander, J. Kuusisto, M. Laakso, S. Padmanabhan, D. J. Porteous, C. Hayward, G. Scotland, F. S. Collins, K. L. Mohlke, T. Hansen, O. Pedersen, M. Boehnke, H .M. Stringham, P. Frossard, C. Newton-Cheh, M. D. Tobin, B. G. Nordestgaard, M. J. Caulfield, A. Mahajan, A. P. Morris, M. Tomaszewski, N. J. Samani, D. Saleheen, F. W. Asselbergs, C. M. Lindgren, J. Danesh, Louise. V. Wain, A. S. Butterworth, J. M. Howson, P. B. Munroe

مصطلحات موضوعية: Uncategorized, IR content

Relation: 2381/38245; https://figshare.com/articles/journal_contribution/Trans-ancestry_meta-analyses_identify_rare_and_common_variants_associated_with_blood_pressure_and_hypertension/10143407

الاتاحة: https://figshare.com/articles/journal_contribution/Trans-ancestry_meta-analyses_identify_rare_and_common_variants_associated_with_blood_pressure_and_hypertension/10143407

المؤلفون: M. Ren, F. Ng, K. Witkowska, M. Baron, A. Townsend-Nicholson, Q. Xiao, A. Hobbs, S. Ye, M.J. Caulfield

المصدر: Journal of Hypertension. 33:e518-e519

مصطلحات موضوعية: Physiology, Internal Medicine, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b1008b937c4f654745547ff14146ce8d
https://doi.org/10.1097/01.hjh.0000469025.55363.41

المؤلفون: Michael Baron, Fu Liang Ng, M. Ren, Mark J. Caulfield, Shu Ye, Andrea Townsend-Nicholson, Adrian J. Hobbs, Qingzhong Xiao, K. Witkowska

المصدر: Journal of Hypertension. 34:e92

مصطلحات موضوعية: medicine.medical_specialty, Angiotensin receptor, Angiotensin II receptor type 1, Vascular smooth muscle, Physiology, business.industry, chemistry.chemical_element, Single-nucleotide polymorphism, Locus (genetics), Calcium, Angiotensin II, Blood pressure, Endocrinology, chemistry, Internal medicine, Internal Medicine, medicine, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b38109a1c189246663be3fef82e1c19
https://doi.org/10.1097/01.hjh.0000491573.57396.0f

المؤلفون: M. J. Caulfield, P. B. Munroe, D. O'Neill, K. Witkowska, F. J. Charchar, M. Doblado, S. Evans, S. Eyheramendy, A. Onipinla, P. Howard, S. Shaw-Hawkins, R. J. Dobson, C. Wallace, S. J. Newhouse, M. Brown, J. M. Connell, A. Dominiczak, M. Farrall, G. M. Lathrop, Nilesh J. Samani, M. Kumari, M. Marmot, E. Brunner, J. Chambers, P. Elliott, J. Kooner, M. Laan, E. Org, G. Veldre, M. Viigimaa, F. P. Cappuccio, C. Ji, R. Iacone, P. Strazzullo, K. H. Moley, C. Cheeseman

مصطلحات موضوعية: Uncategorized, Adult, Aged, Animals, Biological Transport, Blotting, Western, Cell Line, Tumor, Chromatography, Thin Layer, Fatty Acids, Volatile, Female, Fructose, Glucose, Glucose Transport Proteins, Facilitative, Hexoses, Humans, Immunohistochemistry, Kinetics, Longitudinal Studies, Mice, Middle Aged, Oocytes, Organic Anion Transporters, Uric Acid, Uricosuric Agents, Xenopus laevis

Relation: 2381/17547; https://figshare.com/articles/journal_contribution/SLC2A9_is_a_high-capacity_urate_transporter_in_humans_/10113347

الاتاحة: https://figshare.com/articles/journal_contribution/SLC2A9_is_a_high-capacity_urate_transporter_in_humans_/10113347

المؤلفون: J, Hamułka, A, Gronowska-Senger, K, Witkowska

المصدر: Roczniki Panstwowego Zakladu Higieny. 51(3)

مصطلحات موضوعية: Male, Eating, Adolescent, Humans, Female, Feeding Behavior, Child, Energy Intake, Nutrition Surveys, Students

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d7e97dc09b73a1f75eb85348d12f1196
https://pubmed.ncbi.nlm.nih.gov/11138484